Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS1
Variant:p.V20V

HMGCS1

95 papers

Pfam Domains

HMG_CoA_synt_Naa 13–186UCSCHydroxymethylglutaryl-coenzyme A synthase N terminal
HMG_CoA_synt_Caa 187–469UCSCHydroxymethylglutaryl-coenzyme A synthase C terminal

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA synthase 1

HGNC Previous Names

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble); 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098272.3
p.V20V
c.60T>A
Surrounding Variants
1 paper
NM_001098272.3
p.A21V
c.62C>T
1 paper
NM_001098272.3
p.E23Q
c.67G>C
1 paper
NM_001098272.3
p.G18R
c.52G>C
1 paper
NM_001098272.3
p.G18R
c.52G>A
1 paper
NM_001098272.3
p.Q29L
c.86A>T
1 paper
NM_001098272.3
p.A11V
c.32C>T
1 paper
NM_001098272.3
p.L7S
c.20T>C
1 paper
NM_001098272.3
p.E37G
c.110A>G
1 paper
NM_001098272.3
p.Y47insFs
c.140_141ins4
1 paper
NM_001098272.3
p.T48N
c.143C>A
1 paper
NM_001098272.3
p.A54T
c.160G>A
1 paper
NM_001098272.3
p.R62S
c.186A>T
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